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The conundrums in using Down syndrome screening tests for gender selection

By Linda Atkins - posted Wednesday, 20 November 2013

As a prenatal diagnostician, I was, of course, delighted with the newest technology available to Australians for Down syndrome detection.

Developed in the USA, the non-invasive test uses fragments of fetal DNA, called free fetal DNA (or FFDNA for short), which conveniently float around in every pregnant woman’s bloodstream.  We are not sure why, but the finding is consistent across all races and ages. These fragments can be isolated, magnified, and compared to maternal DNA, which allows for the quantification of exactly how much DNA from the fetus is present within the sample.  If a fetus has more DNA (such as an extra chromosome 21, as is seen in Down syndrome), then the test should detect more DNA in the mothers bloodstream. Simple, but highly effective, and largely, in the real world, the case.

So, the test is a small miracle.  It gives us only two values, low risk and high risk.  Low risk confers a less than 1:10,000 chance of Down syndrome, and high risk- well, prenatal testing is strongly advised.  The older methods assign a numerical risk of Down syndrome, ( such as 1:10, 1:100, etc) which the mother then has to compare with the miscarriage risk involved in prenatal diagnostic testing, and also take into consideration her own values and threshold for worrying about failing to detect Down syndrome.  As you can imagine, the sorts of numbers at which women worry about Down syndrome vary wildly.


With the new prenatal technologies, women are simply told that the result is unequivocally low risk, or unambiguously high risk.  In many ways, this test is the prenatal specialist’s dream.  No more uncertainty, less counselling and second guessing, fewer diagnostic tests, which in turn, means fewer miscarriages.  But- the test has been available for less than six months, and already, those of us who perform the test are seeing a darker side.  The test does not just detect Down syndrome.  It also is able to determine fetal gender.  In the last three months, I have seen two patients, and possibly three, who had the test solely to determine fetal gender.

 It’s worth sharing, at this point, some anecdotal evidence as to who we see wanting testing for gender.  I have to start by pointing out that gender selection is uncommon, but well known in my practice. The patients who  present for CVS (chorionic villus sampling, an invasive test) for gender selection are almost all young, from cultures that have a wide disparity in perceived value of men versus women, the woman is almost always less well educated that the man, who acts as a spokesperson for the couple, and the the woman generally  stays silent.  They are referred by the same few GPs, and always have a spurious excuse- a sibling had a child with developmental delay, perhaps a remote family member in the country of origin, etc.  All impossible to further enquire on or prove.

Gender selection, in my experience, is pretty much exclusively carried out in favour of male children.  The family involved will have daughters, and no doubt care for them, but strongly desire a son.  It is a dreadful task to undertake diagnostic testing, which is invasive and uncomfortable, on a poorly educated young woman who doesn’t need the test, and especially so when our trained eyes can see that the fetus is female.  Telephoning the results through is a task I find very difficult.  The worst thing for me, is that , due to the secrecy and lies that surround gender selection, I usually have no idea as to whether the subsequent termination is coercive or not.

FFDNA testing then, in some ways, is a bonus.  The same result as CVS can be achieved by taking a blood sample, paying seven hundred dollars (non-rebatable), and waiting two weeks.  The gender will be through whilst still within the gestation limits for general practices such as Preterm to end the pregnancy, there is no risk to precious male foetuses, and the woman does not need to undergo CVS. If we were looking at risks and benefits to women, then, we would have to say that FFDNA is a significant advance on the older methods if gender selection is desired.

Clearly, the idea of gender selection is abhorrent. I can imagine readers howling in outrage and demanding that we should stop this practice immediately.  Yet we don’t.  We never approach these practices lightly, but there are a number of implications and considerations that should be thought through.

The first is that I am a supporter of women’s rights to terminate pregnancies, on demand.  Termination of pregnancy, whilst still technically illegal, can be carried out for any reason at all, or no reason, up to 20 weeks gestation. Doctors who perform terminations are ethically obligated to ask a few questions to determine that the woman is of sound mind, but they are not allowed to determine who gets a termination on values such as ‘merit’.  To inject the values of myself or my colleagues into decisions regarding which terminations are OK, is, in my mind fundamentally wrong.  It’s the ethical equivalent of the pro-life activist who maintains that termination is wrong- until it isn’t.  Incest, or rape, for example, are ‘OK’, but domestic violence, poverty or contraceptive failure, are not. Ultimately, if we accept that termination of pregnancy should be allowed, on demand, then we support the right’s of families to decide whether, in their own particular circumstances, the pregnancy should be continued. To flat out call gender selection as ‘wrong’ would be to appoint myself as moral arbiter for other women’s values, to further disempower women and assume that I have a right to say what other women should decide regarding their own bodies.  Gender selection is distasteful, but I have to support other women’s rights to undertake it.


The second consideration to me is that, if ultimately we disallow terminations due to gender selection, we may not be doing these children a favour.  To grow up unwanted, possibly unloved, and feeling inferior due to one’s genitals would not exactly be a fate worse than death.  But it’s not exactly a good thing, either.  Discrimination against girls and women is a terrible and very real thing, but we are possibly better attacking the values at their source, rather than insisting families bring up children they don’t want.  It is possible that resources will be better shared amongst the already existing female children, and that egalitarian Australian education values almost universally fostered in schools, in both males and females, will stamp out this practice in only a generation.

Finally, we talk amongst ourselves a lot about coercion and power imbalances in these situations.  We do so because the women themselves are mostly silent, secondary to either language barriers or family dynamics.  As the women themselves don’t generally express opinions to me as to whether these practices are coercive, I actually have no idea as to whether this is the case or not.  I am going on subjective impressions, strongly shared by my teams, which may in fact be the result of our distaste colouring our opinions.  I have no objective evidence, and nor do I have a way of collecting any, that this practice is abhorrent to the women as it is to me.

Ultimately, I have chosen to not question this practice.  It’s an ethical dilemma, but one with no easy solution.  Now that FFDNA testing is freely available, my gut feeling is that we will have more women choosing to gender select.  It remains a question to be answered as to how we will approach this issue.

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About the Author

Linda Atkins is a specialist medical practitioner working in reproductive health. She is interested in social medicine and the effects of media on modern life. While winning several awards for writing in her teenage years, she has recently returned to writing with a primary interest in small, non-fiction works because they fit into a full time specialist career and the demands of three children.

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